المؤلفون: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

المساهمون: Van Haute, Lindsey [0000-0001-7809-1473], Polavarapu, Kiran [0000-0002-8879-6001], Hock, Daniella H [0000-0002-6940-4420], Bardhan, Mainak [0000-0002-4106-409X], Brunetti-Pierri, Nicola [0000-0002-6895-8819], Caruana, Nikeisha J [0000-0002-0817-1686], Helman, Guy [0000-0002-4784-7423], Houlden, Henry [0000-0002-2866-7777], Lenaers, Guy [0000-0003-2736-3349], Rius, Rocio [0000-0002-9871-3126], Rebelo-Guiomar, Pedro [0000-0002-5060-7519], Simons, Cas [0000-0003-3147-8042], Vengalil, Seena [0000-0002-0629-9221], Zaki, Maha S [0000-0001-7840-0002], Thorburn, David R [0000-0002-7725-9470], Stroud, David A [0000-0002-2048-3383], Christodoulou, John [0000-0002-8431-0641], Gustafsson, Claes [0000-0003-3531-8468], Minczuk, Michal [0000-0001-8242-1420], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Van Haute, Lindsey, O'Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Ca, Vengalil, Seena, Zaki, Maha S, Ziegler, Alban, Thorburn, David R, Stroud, David A, Maroofian, Reza, Christodoulou, John, Gustafsson, Clae, Nalini, Atchayaram, Lochmüller, Hann, Minczuk, Michal, Horvath, Rita

مصطلحات موضوعية: Transcription, Genetic, RNA, Mitochondrial, General Physics and Astronomy, 38/90, 13/106, 692/1807/1693, 14, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, 38, 38/91, 82/80, Mitochondrial Proteins, 38/1, 692/420/2489/144, 692/617/375/374, 38/23, 38/22, Animals, Humans, Child, Zebrafish, 64, Multidisciplinary, 64/116, 692/308/2056, article, General Chemistry, 13/51, Mutation, 38/77, 692/700/139/422, Transcription Factors

وصف الملف: application/pdf; application/zip; text/xml

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المؤلفون: James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange‐Line Bruel, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian

المساهمون: Taylor, Jame, Spiller, Michael, Ranguin, Kara, Vitobello, Antonio, Philippe, Christophe, Bruel, Ange-Line, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Willems, Marjolaine, Isidor, Bertrand, Park, Kristen, Balasubramanian, Meena

المصدر: American Journal of Medical Genetics Part A. 188:1497-1514

مصطلحات موضوعية: seizure, Developmental Disabilitie, Developmental Disabilities, global developmental delay, Heterogeneous-Nuclear Ribonucleoprotein U, Phenotype, Neurodevelopmental Disorders, Seizures, HNRNPU, Child, Preschool, Intellectual Disability, Genetics, Humans, Agenesis of Corpus Callosum, Child, Genetics (clinical), Human

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https://doi.org/10.1002/ajmg.a.62677Test

المؤلفون: Monique de Waart, Anina Enderli, Ferdy S van Geest, Adri van der Walt, Krishna Chatterjee, Sjoerd A A van den Berg, Laura Paone, Patricia Crock, Anne-Marie van Wermeskerken, Lilla Szeifert, Francesco Porta, D Barca, Carla Moran, Katalin E Müller, Alice Dica, Athanasia Stoupa, Felipe Monti Lora, Dana Craiu, Hans van Toor, Peter Christian, Amnon Zung, Stefan Groeneweg, W. Edward Visser, Ronald van der Wal, Régis Coutant, Luigi Garibaldi, Marco Spada, Joel Vanderniet, Jolanta Wierzba, Tony Huynh, Greta Lyons, Annette Hackenberg, Gerarda Cappuccio, Serap Turan, Michaela Linder-Lucht, Jan Fairchild, Peter J Simm, Yolanda B. de Rijke, Enrico Bertini, Amy Lawson-Yuen, Erica L T van den Akker, Bianka Heinrich, Nicola Brunetti-Pierri, Michel Polak, Cheyenne Dewey, Rachana Dubey, Christina Reinauer, Praveen G. Paul, Belinda George, Doris Brunner, Robin P. Peeters, Paul Dimitri, Marco Cappa, Anna Simon, Federica Zibordi, Tuba Seven Menevse, Jonathan Gallichan, Anna Kłosowska, Rowen Seckold, Iuliu Bacos, Davide Tonduti, Alexander D Chesover

المساهمون: Internal Medicine, Pediatrics, Clinical Chemistry, van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Dori, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régi, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Han, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward

المصدر: The Journal of clinical endocrinology and metabolism, 107(3), e1136-e1147. Endocrine Society

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, chemistry.chemical_compound, Endocrinology, Clinical endpoint, MCT8 Deficiency, Child, Symporters, Thyroid, Middle Aged, Muscular Atrophy, Treatment Outcome, medicine.anatomical_structure, Child, Preschool, Muscle Hypotonia, Triiodothyronine, Female, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Context (language use), AHDS, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Heart rate, medicine, Humans, Allan-Herndon-Dudley syndrome, Aged, Retrospective Studies, Creatinine, Allan–Herndon–Dudley syndrome, T3 analogue, business.industry, Biochemistry (medical), Infant, Retrospective cohort study, medicine.disease, chemistry, Mutation, Mental Retardation, X-Linked, business, thyromimetic drug, Follow-Up Studies, Hormone

وصف الملف: application/pdf

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https://doi.org/10.1210/clinem/dgab750Test

المؤلفون: Giuseppe Limongelli, Gerarda Cappuccio, Daniela Melis, Martina Caiazza, Marta Rubino, Nicola Brunetti-Pierri, Gabor Matyas, Antonella Iuliano, Alessandro Roca

المساهمون: Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti-Pierri, Nicola

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, losartan, systemic sclerosis, Heart malformation, Pilot Projects, SMAD4, Myhre syndrome, Congenital, Young Adult, Intellectual Disability, Internal medicine, Cryptorchidism, TGF‐beta, Genetics, medicine, Humans, TGF-beta, Preschool, Child, Growth Disorders, Genetics (clinical), Angiotensin II Type 1 Receptor Blockers, Child, Preschool, Facies, Female, Follow-Up Studies, Hand Deformities, Congenital, Losartan, Prognosis, business.industry, Mean age, Original Articles, Hand Deformities, SMAD4 gene, medicine.disease, Clinical trial, Joint stiffness, Cardiology, Original Article, medicine.symptom, business, Range of motion, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6570d754bfd8e8894c682481b63803aTest
https://doi.org/10.1002/ajmg.a.62019Test

المؤلفون: Nicola Brunetti-Pierri, Serena Troisi, Leonilda Bilo, Alice Spano, Tudp, Silvia Maitz, Annalaura Torella, Mariasavina Severino, Vincenzo Nigro, Antonietta Coppola, Gerarda Cappuccio

المساهمون: Troisi, S., Maitz, S., Severino, M., Spano, A., Cappuccio, G., Brunetti-Pierri, N., Torella, A., Nigro, V., Santoro, Claudia, Bilo, L., Coppola, A., Tudp

مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, Adolescent, KAT6A, Spasms, Epilepsy, Seizures, Intellectual disability, Genetics, Medicine, Humans, Dysmorphic facial features, Child, Genetics (clinical), Histone Acetyltransferases, business.industry, General Medicine, medicine.disease, Seizure, Developmental disorder, Phenotype, Speech delay, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002c616e791552880662eae8b4b1b0e0Test
http://hdl.handle.net/11591/463925Test

المؤلفون: Anina Enderli, Krishna Chatterjee, David A. Koolen, Jana Malikova, Paul Dimitri, Roelineke J. Lunsing, Patricia Crock, Charles Marques Lourenço, Corstiaan A. den Uil, Ferdy S van Geest, Jan Lebl, Christine M. Armour, Michaela Linder-Lucht, Tony Huynh, Annette Hackenberg, Zita Halász, Jan Fairchild, Francesco Porta, Adri van der Walt, Verónica Mericq, Gautem P. Ambegaonkar, Nitash Zwaveling-Soonawala, Daniel Konrad, D Barca, Barbara Castellotti, Cláudia Fernandes Lorea, Anna Dolcetta-Capuzzo, Peter J Simm, Heiko Krude, Evelien F. Gevers, Ayhan Abaci, Claudia Castiglioni, Jet van der Spek, Jolante Wierzba, Carla Moran, Serap Turan, Isabelle Oliver-Petit, Felipe Monti Lora, Amnon Zung, Klara Rozenkova, Nicola Brunetti-Pierri, Fabiano de Oliveira Poswar, W. Edward Visser, Gopinath M. Subramanian, Bianka Heinrich, Irenaeus F.M. de Coo, Milou A.M. Stals, Belinda George, Michael Wurm, Alice Dica, Amy Lawson-Yuen, Rachana Dubey, Christina Reinauer, Athanasia Stoupa, Stefan Groeneweg, Joel Vanderniet, Marjolein H G Dremmen, Marie Claire Y. de Wit, Marjo S. van der Knaap, Edna E. Mancilla, Dana Craiu, Korcan Demir, Greta Lyons, Gerarda Cappuccio, Jean Louis Wémeau, Yogen Singh, Anne McGowan, Alberto Alcantud, Praveen G. Paul, Enrico Bertini, Laura Paone, Marco Spada, Régis Coutant, Marco Cappa, Ingrid M. van Beynum, Jonathan Gallichan, Nicole I. Wolf, Michel Polak, Marieke M. van der Knoop, Christian DeGoede, Davide Tonduti, Federica Zibordi, Tuba Seven Menevse, Katalin Eszter Müller, Anna Simon, Marianna Bugiani, Priyanka Bakhtiani, Anna Kłosowska

المساهمون: Internal Medicine, Pediatrics, Neurology, Radiology & Nuclear Medicine, Cardiology, Intensive Care, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Pediatric surgery, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Functional Genomics, Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, Nicola, Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., Craiu, D., Crock, P., Degoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E. F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., van der Knaap, M. S., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C. F., Lourenco, C. M., Lunsing, R. J., Lyons, G., Malikova, J., Mancilla, E. E., Mcgowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Menevse, T. S., Simm, P., Simon, A., Singh, Y., Spada, M., van der Spek, J., Stals, M. A. M., Stoupa, A., Subramanian, G. M., Tonduti, D., Turan, S., den Uil, C. A., Vanderniet, J., van der Walt, A., Wemeau, J. -L., Wierzba, J., de Wit, M. -C. Y., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, W. E.

المصدر: The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, ' Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study ', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605 . https://doi.org/10.1016/S2213-8587Test(20)30153-4
LANCET DIABETES & ENDOCRINOLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Lancet Diabetes & Endocrinology, 8, 594-605
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605
Lancet Diabetes & Endocrinology, 8(7), 594-605. ELSEVIER SCIENCE INC
The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier BV
Lancet. Diabetes and endocrinology, 8(7), 594-605. Elsevier BV

مصطلحات موضوعية: Male, Pediatrics, Endocrinology, Diabetes and Metabolism, Bayley Scales of Infant Development, Monocarboxylic Acid Transporter, 0302 clinical medicine, Endocrinology, Retrospective Studie, Neurodevelopmental Disorder, Medicine, 030212 general & internal medicine, Child, Thyroid hormone transport, Symporters, Mental Disorders, Hazard ratio, SDG 10 - Reduced Inequalities, Middle Aged, Prognosis, Survival Rate, International Agencie, Child, Preschool, Cohort, Mental Disorder, Female, Disease characteristics, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Cohort study, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Prognosi, HEART-RATE, 030209 endocrinology & metabolism, Sudden death, Follow-Up Studie, MONOCARBOXYLATE TRANSPORTER-8, Young Adult, 03 medical and health sciences, HORMONE, Muscular Diseases, Internal Medicine, Humans, PSYCHOMOTOR RETARDATION, Survival rate, Aged, Retrospective Studies, Muscular Disease, business.industry, MUTATIONS, Symporter, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, International Agencies, Retrospective cohort study, Biomarker, Neurodevelopmental Disorders, Mutation, business, Biomarkers, Follow-Up Studies

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https://pure.eur.nl/en/publications/15af8d51-7430-4e63-bbce-74824120e8faTest

المؤلفون: Margherita Lucia De Bernardi, Agnese Di Stazio, Alfonso Romano, Raffaella Minardi, Francesca Bisulli, Laura Licchetta, Salvatore Aiello, Valerio Carelli, Nicola Brunetti-Pierri, Gerarda Cappuccio, Gaetano Terrone

المساهمون: DE BERNARDI, MARGHERITA LUCIA, DI STAZIO, Agnese, Romano, Alfonso, Minardi, Raffaella, Bisulli, Francesca, Licchetta, Laura, Aiello, Salvatore, Carelli, Valerio, BRUNETTI PIERRI, Nicola, Cappuccio, Gerarda, Terrone, Gaetano

المصدر: European journal of medical genetics. 65(5)

مصطلحات موضوعية: GRIN2AHaploinsufficiencyAtypical childhood epilepsy with centrotemporal spikes, Landau-Kleffner Syndrome, Epilepsy, Phenotype, Mutation, Genetics, Humans, Electroencephalography, General Medicine, Child, Receptors, N-Methyl-D-Aspartate, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c3e197f5e47b5f25d7e5c8bb6878ee8Test
https://pubmed.ncbi.nlm.nih.gov/35367634Test

المؤلفون: Paola Goffrini, Felice D'Arco, Enrico Baruffini, Adeline Vanderver, Tamison Jewett, Enrico Bertini, Anya Revah-Politi, Eirik Bratland, Vandana Shashi, Alessandra D'Amico, Camilla Ceccatelli Berti, Vimla Aggarwal, Silvia Maitz, Kwame Anyane-Yeboa, Tara H. Stamper, Francesco Canonico, Gabriel S Kupchik, Andreas Benneche, César Augusto Pinheiro Ferreira Alves, Daniela Longo, Gerarda Cappuccio, Annalaura Torella, Vincenzo Nigro, Nicola Brunetti-Pierri, Marjo S van der Knaap, Siren Berland, Jennifer A. Sullivan

المساهمون: Pediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Functional Genomics, Cappuccio, G., Ceccatelli Berti, C., Baruffini, E., Sullivan, J., Shashi, V., Jewett, T., Stamper, T., Maitz, S., Canonico, F., Revah-Politi, A., Kupchik, G. S., Anyane-Yeboa, K., Aggarwal, V., Benneche, A., Bratland, E., Berland, S., D'Arco, F., Alves, C. A., Vanderver, A., Longo, D., Bertini, E., Torella, A., Nigro, V., D'Amico, A., van der Knaap, M. S., Goffrini, P., Brunetti Pierri, N., Brunetti-Pierri, N.

المصدر: Human Mutation, 42(6), 745-761. Wiley-Liss Inc.
Telethon Undiagnosed Diseases Program 2021, ' Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease ', Human Mutation, vol. 42, no. 6, pp. 745-761 . https://doi.org/10.1002/humu.24210Test
Web of Science
Human Mutation

مصطلحات موضوعية: Lysine-tRNA Ligase, Male, Mitochondrion, lysyl-transfer RNA synthetase, Cohort Studies, Cytosol, KARS, lysyl‐transfer RNA synthetase, Child, Research Articles, Muscular Dystrophie, Genetics (clinical), Allele, Genetics, 0303 health sciences, Progressive microcephaly, Homozygote, 030305 genetics & heredity, Phenotype, Mitochondria, Pedigree, Isoenzymes, mitochondrial disease, Child, Preschool, Transfer RNA, Disease Progression, Microcephaly, Female, KARS1, Research Article, Human, Gene isoform, Adolescent, Mitochondrial disease, Saccharomyces cerevisiae, Biology, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Humans, Abnormalities, Multiple, Alleles, 030304 developmental biology, Organisms, Genetically Modified, Leukodystrophy, Brain Diseases, Metabolic, Inborn, Infant, LysRS, medicine.disease, Isoenzyme, Cohort Studie

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::882282390879396ca62daaccc96a0201Test
https://research.vumc.nl/en/publications/ac77c7fb-0db0-43ed-8e07-bd8ed9a17451Test

المؤلفون: Carolin V. Schneider, Malin Fromme, Pavel Strnad, Christian Trautwein, Nicola Brunetti-Pierri

المساهمون: Fromme, Malin, Schneider, Carolin V, Trautwein, Christian, Brunetti-Pierri, Nicola, Strnad, Pavel

المصدر: Journal of hepatology. 76(4)

مصطلحات موضوعية: Adult, Liver Cirrhosis, Heterozygote, Disease, medicine.disease_cause, Liver disease, alpha 1-Antitrypsin Deficiency, Genotype, Medicine, Humans, Child, liver fibrosis, Liver injury, Mutation, Alpha 1-antitrypsin deficiency, Hepatology, business.industry, liver cirrhosi, Endoplasmic reticulum, Pi*Z, Homozygote, medicine.disease, Phenotype, Fibroscan, alpha 1-Antitrypsin, Immunology, SERPINA1, business, Pi*S

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3cb70544a31deea1975a3262a7c18a5Test
https://pubmed.ncbi.nlm.nih.gov/34848258Test

المؤلفون: Nicola Brunetti-Pierri, Annamaria Staiano, Simona Fecarotta, Giancarlo Parenti, Pietro Strisciuglio

المساهمون: Brunetti-Pierri, N., Fecarotta, S., Staiano, A., Strisciuglio, P., Parenti, G.

المصدر: Genetics in Medicine

مصطلحات موضوعية: Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pneumonia, Viral, Unit (housing), Betacoronavirus, Pandemic, Humans, Medicine, Infection control, Genetics(clinical), Child, Pandemics, Genetics (clinical), Infection Control, biology, SARS-CoV-2, business.industry, Comment, COVID-19, Continuity of Patient Care, biology.organism_classification, Virology, Italy, Practice Guidelines as Topic, Continuity of care, Coronavirus Infections, business, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5574a72e0bfcd6cfbaed2e2b24fcb692Test
https://doi.org/10.1038/s41436-020-0831-4Test